Background: Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. Case presentation: We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Conclusion: Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.
CITATION STYLE
Landau, D., Hirsch, H. J., & Gross-Tsur, V. (2016). Case report: Severe asymptomatic hyponatremia in Prader-Willi Syndrome. BMC Pediatrics, 16(1). https://doi.org/10.1186/s12887-016-0563-4
Mendeley helps you to discover research relevant for your work.